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Πλοήγηση ανά Θέμα "COMPLEX-I DEFICIENCY"

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    • Mitochondrial tRNA mutations - Clinical and functional perturbations 

      Zifa, E.; Giannouli, S.; Theotokis, P.; Stamatis, O.; Mamuris, Z.; Stathopoulos, C. (2007)
      During the last decade, there has been a progressive accumulation of reports that connect the identification of specific mitochondrial tRNA gene mutations to severe disorders in human. As a result, mitochondrial tRNA genes ...

    • A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality 

      Crimi, M.; Papadimitriou, A.; Galbiati, S.; Palamidou, P.; Fortunato, F.; Bordoni, A.; Papandreou, U.; Papadimitriou, D.; Hadjigeorgiou, G. M.; Drogari, E.; Bresolin, N.; Comi, G. P. (2004)
      We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal ...